Copy Number Variation in GCK in Patients With Maturity-Onset Diabetes of the Young
Author:
Affiliation:
1. Department of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada
2. Department of Pediatrics, CHU Sainte-Justine, University of Montreal, Montreal, Quebec, Canada
Funder
Martha G. Blackburn
Heart and Stroke Foundation of Canada
Genome Canada
Sanofi-Aventis
Novo Nordisk Canada
Merck
Canadian Institutes of Health Research
Canadian Society for Endocrinology and Metabolism
Jacob J. Wolfe
Edith Schulich Vinet
Publisher
The Endocrine Society
Subject
Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism
Link
http://academic.oup.com/jcem/article-pdf/104/8/3428/28865553/jc.2018-02574.pdf
Reference38 articles.
1. When is it MODY? Challenges in the interpretation of sequence variants in MODY genes;Althari;Rev Diabet Stud,2015
2. Maturity-onset diabetes of the young (MODY): an update;Anık;J Pediatr Endocrinol Metab,2015
3. Genetic confirmation rate in clinically suspected maturity-onset diabetes of the young;Brahm;Can J Diabetes,2016
4. GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated;Carmody;Acta Diabetol,2016
5. MODY: history, genetics, pathophysiology, and clinical decision making;Fajans;Diabetes Care,2011
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1. High prevalence of copy number variations in the Japanese participants with suspected MODY;Clinical Genetics;2024-05-11
2. Partial GCK gene deletion mutations causing maturity-onset diabetes of the young;Acta Diabetologica;2023-09-13
3. A Novel GCK Large Genomic Rearrangement in a Patient with MODY-2 Detected by Clinical Exome Sequencing;Genes;2022-11-13
4. Low genetic confirmation rate in South Indian subjects with a clinical diagnosis of maturity-onset diabetes of the young (MODY) who underwent targeted next-generation sequencing for 13 genes;Journal of Endocrinological Investigation;2021-11-06
5. Frequency and spectrum of glucokinase mutations in an adult Maltese population;Acta Diabetologica;2021-10-22
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